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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Idiopathic Basal Ganglia Calcification 4
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Accession:DOID:9000858 term browser browse the term
Synonyms:exact_synonym: IBGC4
 xref: MIM:615007;   MONDO:0014004



show annotations for term's descendants           Sort by:
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 OMIM
ClinVar
PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 More... NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        mineral metabolism disease 959
          calcium metabolism disease 630
            calcinosis 553
              basal ganglia calcification 316
                Idiopathic Basal Ganglia Calcification 4 1
Path 2
Term Annotations click to browse term
  disease 19141
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        acquired metabolic disease 2539
          mineral metabolism disease 959
            calcium metabolism disease 630
              calcinosis 553
                basal ganglia calcification 316
                  Idiopathic Basal Ganglia Calcification 4 1
paths to the root